. 2022 Oct 25;44(4):50. doi: 10.1007/s40656-022-00533-8

Table 8.

Terminology and clinical care

I. Justification of surgery
I.a. Normal appearance	Based on expert opinion, the overwhelming majority of surgical specialists continue to recommend restoration of normal anatomy in female patients in early childhood (Baskin et al. 2017, p. 230) A 2-year-old child reared as a girl child was brought by parents with ambiguous genitalia noticed since birth (…) the child underwent bilateral gonadectomy and rehabilitated her to lead a life as a girl (Saikia, 2019, p. 169)
I.b. Risk of malignancy	This case highlights the importance of thorough surgical exploration to ensure full excision of all gonadal tissue discordant with sex of rearing (…) Goals of surgery include achieving desirable cosmesis, establishing urinary function, preserving any future fertility, and eliminating or decreasing the risk of malignancy (Barham, 2016, p. 195) Some recent studies have recommended gonad removal after puberty. In our patients, the gonads were removed before puberty reflecting the wishes of the parents to escape confusion for the patients’ gender identity (Heo, 2018, p. 224)
I.c. Questioning risk of malignancy	Growing evidence suggested the frequency of gonadoblastoma in DSD patients remains various and it is not necessary for all DSD patients to receive gonadectomy. Moreover, the optimal timing of gonadectomy remains controversial. The rarity of the disorder makes the establishment of standard treatment guidelines difficult. The individualized treatment strategy is very important for each patient with DSD (…) the preference of patients and parents should be put into consideration (Chen et al., 2018, pp. 243–244) The gonadal tumor risk is highly variable in disorders of sex development, (…) Whereas early gonadectomy and feminizing surgery were often recommended in disorders of sex development with a high tumor risk the current attitude is to avoid mutilating surgeries in children and to identify more accurately the tumor risk of gonads (Lepais 2016, p. 1400)

I. Justification of surgery

I.a. Normal appearance

Based on expert opinion, the overwhelming majority of surgical specialists continue to recommend restoration of normal anatomy in female patients in early childhood (Baskin et al. 2017, p. 230)

A 2-year-old child reared as a girl child was brought by parents with ambiguous genitalia noticed since birth (…) the child underwent bilateral gonadectomy and rehabilitated her to lead a life as a girl (Saikia, 2019, p. 169)

I.b. Risk of malignancy

This case highlights the importance of thorough surgical exploration to ensure full excision of all gonadal tissue discordant with sex of rearing (…) Goals of surgery include achieving desirable cosmesis, establishing urinary function, preserving any future fertility, and eliminating or decreasing the risk of malignancy (Barham, 2016, p. 195)

Some recent studies have recommended gonad removal after puberty. In our patients, the gonads were removed before puberty reflecting the wishes of the parents to escape confusion for the patients’ gender identity (Heo, 2018, p. 224)

I.c. Questioning risk of malignancy

Growing evidence suggested the frequency of gonadoblastoma in DSD patients remains various and it is not necessary for all DSD patients to receive gonadectomy. Moreover, the optimal timing of gonadectomy remains controversial. The rarity of the disorder makes the establishment of standard treatment guidelines difficult. The individualized treatment strategy is very important for each patient with DSD (…) the preference of patients and parents should be put into consideration (Chen et al., 2018, pp. 243–244)

The gonadal tumor risk is highly variable in disorders of sex development, (…) Whereas early gonadectomy and feminizing surgery were often recommended in disorders of sex development with a high tumor risk the current attitude is to avoid mutilating surgeries in children and to identify more accurately the tumor risk of gonads (Lepais 2016, p. 1400)

II. Referral of surgery
II. a Stigmatizing/heteronormative language	Approximately 1 in 20,000 “female children” born is actually a male with complete androgen insensitivity syndrome (CAIS). In normal females, traces of androgen secreted from adrenals will effect minimal masculinization such as hairy legs and acne. But individuals with CAIS will be fully feminized with typical female phenotype sans uterus and vagina. They even develop attractive breasts at puberty (…) Therefore, it is appropriate to raise CAIS boys as girls. Vaginoplasty and perhaps orchidectomy may be postponed until late adolescence (Raveenthiran, 2017, p. 704) Removal of testes in patients with complete androgen insensitivity is controversial. Most recent data indicate that the risk for tumor development is low until early adult years (…) Delayed surgery promotes shared decision-making with the patient, family, and healthcare providers (…) No uniform consensus regarding the indications, timing, and extent of the operation is applicable for individuals with DSDs. Each patient warrants individual contemplation and attention by a multidisciplinary team at experienced centers. Considerations include future fertility, risk for gonadal tumors, propensity for urinary tract infections, avoiding stigmatization related to atypical genital anatomy, and ensuring functional genital anatomy to allow future penetrative intercourse (Witchel, 2018, p. 97)

II. Referral of surgery

II. a Stigmatizing/heteronormative language

Approximately 1 in 20,000 “female children” born is actually a male with complete androgen insensitivity syndrome (CAIS). In normal females, traces of androgen secreted from adrenals will effect minimal masculinization such as hairy legs and acne. But individuals with CAIS will be fully feminized with typical female phenotype sans uterus and vagina. They even develop attractive breasts at puberty (…) Therefore, it is appropriate to raise CAIS boys as girls. Vaginoplasty and perhaps orchidectomy may be postponed until late adolescence (Raveenthiran, 2017, p. 704)

Removal of testes in patients with complete androgen insensitivity is controversial. Most recent data indicate that the risk for tumor development is low until early adult years (…) Delayed surgery promotes shared decision-making with the patient, family, and healthcare providers (…) No uniform consensus regarding the indications, timing, and extent of the operation is applicable for individuals with DSDs. Each patient warrants individual contemplation and attention by a multidisciplinary team at experienced centers. Considerations include future fertility, risk for gonadal tumors, propensity for urinary tract infections, avoiding stigmatization related to atypical genital anatomy, and ensuring functional genital anatomy to allow future penetrative intercourse (Witchel, 2018, p. 97)

III. Medical language & attitudes
III.a. Critical reflection	Far from assuming that untreated women cannot “have sex” because they could not physically engage in coitus, our findings suggest that it is important to recognize the women as sexual beings regardless of their genital anatomy. Instead of introducing vaginal construction as something that the women (will) need to “have sex,” health professionals should emphasize to the women that they are already able to access sexual intimacy, relationships, and pleasure. In situating vaginal construction as a choice within a care pathway with a much broader focus, care providers can avoid exacerbating normative pressures on women to take up vaginal construction (too soon) (Dear et al., 2019, p. 303) In many cases, reproductive and DSD diagnoses are complex and might require the clinician to help disclose age appropriate information to the patient regarding the pathophysiology of her reproductive condition avoiding medical jargon (…) For example, when providing this information, it is important to avoid confusing terminology such as “blind vagina” in the cases of vaginal agenesis (Hertweck et al. 2019, p. 108)

III. Medical language & attitudes

III.a. Critical reflection

Far from assuming that untreated women cannot “have sex” because they could not physically engage in coitus, our findings suggest that it is important to recognize the women as sexual beings regardless of their genital anatomy. Instead of introducing vaginal construction as something that the women (will) need to “have sex,” health professionals should emphasize to the women that they are already able to access sexual intimacy, relationships, and pleasure. In situating vaginal construction as a choice within a care pathway with a much broader focus, care providers can avoid exacerbating normative pressures on women to take up vaginal construction (too soon) (Dear et al., 2019, p. 303)

In many cases, reproductive and DSD diagnoses are complex and might require the clinician to help disclose age appropriate information to the patient regarding the pathophysiology of her reproductive condition avoiding medical jargon (…) For example, when providing this information, it is important to avoid confusing terminology such as “blind vagina” in the cases of vaginal agenesis (Hertweck et al. 2019, p. 108)

IV. Patients’ lived experience
IV.a. Biomedical approach	We present an interesting; almost bizarre case of a male with non-functional testes early during childhood and undiagnosed and untreated hypogonadism until his fifth decade of life. We checked the grip strength of our patient and recorded abnormally low levels for the male sex, within the normal ranges for a woman of the same age. Interestingly in this case the patient had no sexual activity, preferences, sexual interest or needs probably due to the effects of early testosterone deficiency on brain development (Carsote et al., 2016, p. 80)
IV.b. Psychological evaluation	The present case [of ovotesticular DSD] is an extremely rare one in that the external genitalia is nearly normal, and the patient (and his parents) has not been in doubt about any sexual abnormality until a progressive breast enlargement occurred. We think that this delay in applying for medical care might be an unconscious resistance to a possible diagnosis of a sexual abnormality. In our patient, reactive behaviors such as not believing in the diagnosis and not cooperating in treatment processes were observed at the first. After accepting the diagnosis, he developed symptoms of severe depression (Özdemir, 2019, p. 4) The genetic findings were explained to the patient [a 16-year-old Hispanic female adolescent], who expressed female gender identity and frustration with her lack of development of secondary sexual characteristics. Laparoscopy with gonadectomy was recommended (Hunter 2016, p. e61)
IV.c. Patient-centered approach	A previously healthy 13-yr-old male adolescent was referred to the pediatric endocrinology outpatient clinic due to progressive bilateral gynecomastia. This feature was a major concern for the adolescent during the previous year (…) In this particular case, due to azoospermia and the risk of gonadoblastoma associated with the 46, XX male disorders of sexual development and very small testicles, surgical removal and testicular prothesis were recommended to the adolescent, which is still under consideration. Meanwhile, self-examinations and regular ultrasound were advised (Adriao, 2020, pp. 43–44)

IV. Patients’ lived experience

IV.a. Biomedical approach

We present an interesting; almost bizarre case of a male with non-functional testes early during childhood and undiagnosed and untreated hypogonadism until his fifth decade of life. We checked the grip strength of our patient and recorded abnormally low levels for the male sex, within the normal ranges for a woman of the same age. Interestingly in this case the patient had no sexual activity, preferences, sexual interest or needs probably due to the effects of early testosterone deficiency on brain development (Carsote et al., 2016, p. 80)

IV.b. Psychological evaluation

The present case [of ovotesticular DSD] is an extremely rare one in that the external genitalia is nearly normal, and the patient (and his parents) has not been in doubt about any sexual abnormality until a progressive breast enlargement occurred. We think that this delay in applying for medical care might be an unconscious resistance to a possible diagnosis of a sexual abnormality. In our patient, reactive behaviors such as not believing in the diagnosis and not cooperating in treatment processes were observed at the first. After accepting the diagnosis, he developed symptoms of severe depression (Özdemir, 2019, p. 4)

The genetic findings were explained to the patient [a 16-year-old Hispanic female adolescent], who expressed female gender identity and frustration with her lack of development of secondary sexual characteristics. Laparoscopy with gonadectomy was recommended (Hunter 2016, p. e61)

IV.c. Patient-centered approach

A previously healthy 13-yr-old male adolescent was referred to the pediatric endocrinology outpatient clinic due to progressive bilateral gynecomastia. This feature was a major concern for the adolescent during the previous year (…) In this particular case, due to azoospermia and the risk of gonadoblastoma associated with the 46, XX male disorders of sexual development and very small testicles, surgical removal and testicular prothesis were recommended to the adolescent, which is still under consideration. Meanwhile, self-examinations and regular ultrasound were advised (Adriao, 2020, pp. 43–44)

V. The role of culture and religion
V.a. Impact on medical decisions	Ten percent of our study participants recommended surgery at puberty or no surgery. This is a relatively low percentage considering the emerging trend of deferring surgery to adulthood with consideration of involving patients in decision-making (…) cultural and religious factors do have an impact on gender assignment leading to unique practice in the Islamic region irrespective of whether international consensus guidelines are available or lacking (Deeb, 2019, pp. 80–81) Working in a largely conservative and poorly resourced African population implies that decisions on management need to reflect the importance of the family unit, the customs, and the lack of social services (…) the upbringing in these communities is communal-based, an early decision on the gender of rearing is essential and assists early integration of the child into the society (…) Open communication might help parents of young children make informed decisions that are in line with their personal and cultural values leading to greater confidence in decision-making with greater satisfaction and less regret (Nasir et al., 2019, p. 26)

V. The role of culture and religion

V.a. Impact on medical decisions

Ten percent of our study participants recommended surgery at puberty or no surgery. This is a relatively low percentage considering the emerging trend of deferring surgery to adulthood with consideration of involving patients in decision-making (…) cultural and religious factors do have an impact on gender assignment leading to unique practice in the Islamic region irrespective of whether international consensus guidelines are available or lacking (Deeb, 2019, pp. 80–81)

Working in a largely conservative and poorly resourced African population implies that decisions on management need to reflect the importance of the family unit, the customs, and the lack of social services (…) the upbringing in these communities is communal-based, an early decision on the gender of rearing is essential and assists early integration of the child into the society (…) Open communication might help parents of young children make informed decisions that are in line with their personal and cultural values leading to greater confidence in decision-making with greater satisfaction and less regret (Nasir et al., 2019, p. 26)